Literature DB >> 30796585

Auto-inflammation in a Patient with a Novel Homozygous OTULIN Mutation.

Mohammad Nabavi1, Mohammad Shahrooei2,3, Hassan Rokni-Zadeh4, Jeroen Vrancken5, Majid Changi-Ashtiani6, Kian Darabi1, Mostafa Manian7, Farhad Seif7,8, Isabelle Meyts3,9, Arnout Voet5, Leen Moens3, Xavier Bossuyt10,11.   

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Year:  2019        PMID： 30796585     DOI： 10.1007/s10875-019-00599-3

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


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  5 in total

1.  Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease.

Authors:  Qing Zhou; Xiaomin Yu; Erkan Demirkaya; Natalie Deuitch; Deborah Stone; Wanxia Li Tsai; Hye Sun Kuehn; Hongying Wang; Dan Yang; Yong Hwan Park; Amanda K Ombrello; Mary Blake; Tina Romeo; Elaine F Remmers; Jae Jin Chae; James C Mullikin; Ferhat Güzel; Joshua D Milner; Manfred Boehm; Sergio D Rosenzweig; Massimo Gadina; Steven B Welch; Seza Özen; Rezan Topaloglu; Mario Abinun; Daniel L Kastner; Ivona Aksentijevich
Journal:  Proc Natl Acad Sci U S A       Date:  2016-08-24       Impact factor: 11.205

2.  OTULIN antagonizes LUBAC signaling by specifically hydrolyzing Met1-linked polyubiquitin.

Authors:  Kirstin Keusekotten; Paul Ronald Elliott; Laura Glockner; Berthe Katrine Fiil; Rune Busk Damgaard; Yogesh Kulathu; Tobias Wauer; Manuela Kathrin Hospenthal; Mads Gyrd-Hansen; Daniel Krappmann; Kay Hofmann; David Komander
Journal:  Cell       Date:  2013-06-06       Impact factor: 41.582

3.  Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia.

Authors:  Bertrand Boisson; Emmanuel Laplantine; Kerry Dobbs; Aurélie Cobat; Nadine Tarantino; Melissa Hazen; Hart G W Lidov; Gregory Hopkins; Likun Du; Aziz Belkadi; Maya Chrabieh; Yuval Itan; Capucine Picard; Jean-Christophe Fournet; Hermann Eibel; Erdyni Tsitsikov; Sung-Yun Pai; Laurent Abel; Waleed Al-Herz; Jean-Laurent Casanova; Alain Israel; Luigi D Notarangelo
Journal:  J Exp Med       Date:  2015-05-25       Impact factor: 14.307

4.  Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency.

Authors:  Bertrand Boisson; Emmanuel Laplantine; Carolina Prando; Silvia Giliani; Elisabeth Israelsson; Zhaohui Xu; Avinash Abhyankar; Laura Israël; Giraldina Trevejo-Nunez; Dusan Bogunovic; Alma-Martina Cepika; Donna MacDuff; Maya Chrabieh; Marjorie Hubeau; Fanny Bajolle; Marianne Debré; Evelina Mazzolari; Donatella Vairo; Fabrice Agou; Herbert W Virgin; Xavier Bossuyt; Caroline Rambaud; Fabio Facchetti; Damien Bonnet; Pierre Quartier; Jean-Christophe Fournet; Virginia Pascual; Damien Chaussabel; Luigi D Notarangelo; Anne Puel; Alain Israël; Jean-Laurent Casanova; Capucine Picard
Journal:  Nat Immunol       Date:  2012-10-28       Impact factor: 25.606

5.  The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity.

Authors:  Rune Busk Damgaard; Jennifer A Walker; Paola Marco-Casanova; Neil V Morgan; Hannah L Titheradge; Paul R Elliott; Duncan McHale; Eamonn R Maher; Andrew N J McKenzie; David Komander
Journal:  Cell       Date:  2016-08-11       Impact factor: 41.582
  5 in total
  15 in total

1.  Cross-regulation between LUBAC and caspase-1 modulates cell death and inflammation.

Authors:  Todd Douglas; Maya Saleh
Journal:  J Biol Chem       Date:  2020-03-02       Impact factor: 5.157

2.  Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin.

Authors:  Anna-Lena Neehus; Emmanuel Laplantine; Frederik Staels; Masato Ogishi; Yoann Seeleuthner; Franck Rapaport; Stéphanie Humblet-Baron; Adrian Liston; Laurent Abel; Bertrand Boisson; Jean-Laurent Casanova; András N Spaan; Keenan A Lacey; Erika Van Nieuwenhove; Maya Chrabieh; David Hum; Mélanie Migaud; Araksya Izmiryan; Lazaro Lorenzo; Tatiana Kochetkov; Dani A C Heesterbeek; Bart W Bardoel; Ashley L DuMont; Kerry Dobbs; Solenne Chardonnet; Søren Heissel; Timour Baslan; Peng Zhang; Rui Yang; Dusan Bogunovic; Herman F Wunderink; Pieter-Jan A Haas; Henrik Molina; Griet Van Buggenhout; Stanislas Lyonnet; Luigi D Notarangelo; Mikko R J Seppänen; Robert Weil; Gisela Seminario; Héctor Gomez-Tello; Carine Wouters; Mehrnaz Mesdaghi; Mohammad Shahrooei; Xavier Bossuyt; Erdal Sag; Rezan Topaloglu; Seza Ozen; Helen L Leavis; Maarten M J van Eijk; Liliana Bezrodnik; Lizbeth Blancas Galicia; Alain Hovnanian; Aude Nassif; Brigitte Bader-Meunier; Bénédicte Neven; Isabelle Meyts; Rik Schrijvers; Anne Puel; Jacinta Bustamante; Ivona Aksentijevich; Daniel L Kastner; Victor J Torres
Journal:  Science       Date:  2022-06-17       Impact factor: 63.714

Review 3.  Deubiquitinases in cell death and inflammation.

Authors:  Kim Newton; Alexander D Gitlin
Journal:  Biochem J       Date:  2022-05-27       Impact factor: 3.766

4.  Screening of OTULIN gene mutation with targeted next generation sequencing in Turkish populations and in silico analysis of these mutations.

Authors:  Yüksel Gezgin; Berkay Kırnaz; Afig Berdeli
Journal:  Mol Biol Rep       Date:  2022-03-16       Impact factor: 2.742

Review 5.  Met1-linked ubiquitin signalling in health and disease: inflammation, immunity, cancer, and beyond.

Authors:  Akhee Sabiha Jahan; Camilla Reiter Elbæk; Rune Busk Damgaard
Journal:  Cell Death Differ       Date:  2021-01-13       Impact factor: 12.067

Review 6.  Linear Ubiquitin Code: Its Writer, Erasers, Decoders, Inhibitors, and Implications in Disorders.

Authors:  Daisuke Oikawa; Yusuke Sato; Hidefumi Ito; Fuminori Tokunaga
Journal:  Int J Mol Sci       Date:  2020-05-11       Impact factor: 5.923

7.  OTULIN is a new target of EA treatment in the alleviation of brain injury and glial cell activation via suppression of the NF-κB signalling pathway in acute ischaemic stroke rats.

Authors:  Hongbei Xu; You Wang; Yong Luo
Journal:  Mol Med       Date:  2021-04-09       Impact factor: 6.354

8.  OTULIN protects the liver against cell death, inflammation, fibrosis, and cancer.

Authors:  Rune Busk Damgaard; Helen E Jolin; Michael E D Allison; Susan E Davies; Hannah L Titheradge; Andrew N J McKenzie; David Komander
Journal:  Cell Death Differ       Date:  2020-03-30       Impact factor: 15.828

Review 9.  Ubiquitin-dependent and -independent functions of OTULIN in cell fate control and beyond.

Authors:  Nadine Weinelt; Sjoerd J L van Wijk
Journal:  Cell Death Differ       Date:  2020-12-07       Impact factor: 12.067

Review 10.  The Met1-linked ubiquitin machinery in inflammation and infection.

Authors:  Berthe Katrine Fiil; Mads Gyrd-Hansen
Journal:  Cell Death Differ       Date:  2021-01-20       Impact factor: 12.067
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